Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 CausalMutation CLINVAR Second-line treatments after first-line gefitinib therapy in advanced nonsmall cell lung cancer. 19536777

2010
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 CausalMutation CLINVAR We reported a case of non-small cell lung cancer harboring a rare epidermal growth factor somatic mutation, codon 768 AGC > ATC in exon 20 (S768I), who showed a good clinical response to gefitinib. 20522446

2010
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 GeneticVariation CLINVAR Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy. 19147750

2009
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 GeneticVariation CLINVAR EGFR mutants found in non-small cell lung cancer show different levels of sensitivity to suppression of Src: implications in targeting therapy. 17653080

2008
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 CausalMutation CLINVAR EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification. 16863509

2006
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 CausalMutation CLINVAR Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants. 16205628

2006
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 CausalMutation CLINVAR High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan. 15623594

2004